Evidence map›Paper›PMID 27594680›Full record

ArticleNeurobiology of aging2016

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Qiang Gang, Conceição Bettencourt, Pedro M Machado, Stefen Brady, Janice L Holton, Alan M Pittman, Deborah Hughes, Estelle Healy, Matthew Parton, David Hilton-Jones and 20 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of aging, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
5.0field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 52 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Review
  5. Review
  6. VCP-related myopathy: a case series and a review of literature.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2023
    Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. The Genetics of Autoimmune Myositis.Frontiers in immunology · 2022
    Review
  13. Review
  14. Article
  15. Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.International journal of molecular sciences · 2020
    Review
  16. Autophagy and disease: unanswered questions.Cell death and differentiation · 2020
    Review
  17. Article
  18. Inclusion Body Myositis: Update on Pathogenesis and Treatment.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018
    Review
  19. Update on muscle disease.Journal of neurology · 2018
    Review
  20. Update on Inclusion Body Myositis.Current rheumatology reports · 2018
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

30 authors at 13 institutions in 6 countries.

Qiang GangDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK.
Conceição BettencourtDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London, UK.
Pedro M MachadoDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Centre for Rheumatology, Division of Medicine, University College London, London, UK.
Stefen BradyMRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
Janice L HoltonMRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK.
Alan M PittmanDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; Reta Lila Weston Laboratories, UCL Institute of Neurology, London, UK.
Deborah HughesDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK.
Estelle HealyMRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK.
Matthew PartonMRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK.
David Hilton-JonesNuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK.
Perry B ShiehDepartment of Neurology, University of California, Los Angeles, Los Angeles, CA, USA.
Merrilee NeedhamWestern Australian Neurosciences Research Institute (WANRI), University of Western Australia and Murdoch University, Fiona Stanley Hospital, Perth, Australia.
Christina LiangDepartment of Neurology, Royal North Shore Hospital, New South Wales, Australia.
Edmar ZanoteliDepartment of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil.
Leonardo Valente de CamargoDepartment of Neurology, Medical School of the University of São Paulo (FMUSP), São Paulo, Brazil.
Boel De PaepeDepartment of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium.
Jan De BleeckerDepartment of Neurology and Neuromuscular Reference Centre, Ghent University Hospital, Ghent, Belgium.
Aziz ShaibaniNerve and Muscle Center of Texas, Houston, TX, USA.
Michela RipoloneNeuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Raffaella ViolanoNeuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Maurizio MoggioNeuromuscular Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
Richard J BarohnThe University of Kansas Medical Centre, Kansas City, KS, USA.
Mazen M DimachkieThe University of Kansas Medical Centre, Kansas City, KS, USA.
Marina MoraNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milano, Italy.
Renato MantegazzaNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milano, Italy.
Simona ZanottiNeuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milano, Italy.
Andrew B SingletonLaboratory of Neurogenetics, National Institute on Aging, National Institute of Health, Bethesda, MD, USA.
Michael G HannaDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address: m.hanna@ucl.ac.uk.
Henry HouldenDepartment of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, UK; MRC Centre for Neuromuscular Diseases, Institute of Neurology, University College London, Queen Square, London, UK; Neurogenetics Laboratory, Institute of Neurology, University College London, Queen Square, London, UK. Electronic address: h.houlden@ucl.ac.uk.
Muscle Study Group and The International IBM Genetics Consortium
Queen Mary University of London · GBNational Hospital for Neurology and Neurosurgery · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Milan · ITJohn Radcliffe Hospital · GBGhent University Hospital · BEUniversidade de São Paulo · BRUniversity of Kansas Medical Center · USMurdoch University · AURoyal North Shore Hospital · AUTexas Nerve and Paralysis Institute · USUniversity of California, Los Angeles · USNational Institute on Aging · US

Funding

Assessment of Candidate Loci in Neurological diseasesZIAAG000957 · NIA · NATIONAL INSTITUTE ON AGING · PI SINGLETON, ANDREW · 2009 to 2024
$12.2M
Medical Research Council G0601943Medical Research Council G0800674Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/K000608/1Medical Research Council MR/K006312/1Medical Research Council MR/N003322/1Wellcome Trust
6 · The paper itself

Abstract

Genetic factors have been suggested to be involved in the pathogenesis of sporadic inclusion body myositis (sIBM). Sequestosome 1 (SQSTM1) and valosin-containing protein (VCP) are 2 key genes associated with several neurodegenerative disorders but have yet to be thoroughly investigated in sIBM. A candidate gene analysis was conducted using whole-exome sequencing data from 181 sIBM patients, and whole-transcriptome expression analysis was performed in patients with genetic variants of interest. We identified 6 rare missense variants in the SQSTM1 and VCP in 7 sIBM patients (4.0%). Two variants, the SQSTM1 p.G194R and the VCP p.R159C, were significantly overrepresented in this sIBM cohort compared with controls. Five of these variants had been previously reported in patients with degenerative diseases. The messenger RNA levels of major histocompatibility complex genes were upregulated, this elevation being more pronounced in SQSTM1 patient group. We report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM. These data suggest that defects in neurodegenerative pathways may confer genetic susceptibility to sIBM and reinforce the mechanistic overlap in these neurodegenerative disorders.

Indexed as

Genetic Association StudiesAdenosine TriphosphatasesAgedAged, 80 and overCell Cycle ProteinsGenetic Predisposition to DiseaseGenetic VariationHumansMiddle AgedMyositis, Inclusion BodyRiskSequestosome-1 ProteinValosin Containing ProteinAdenosine TriphosphatasesCell Cycle ProteinsSequestosome-1 ProteinSQSTM1 protein, humanValosin Containing ProteinVCP protein, humanGenetic risk factorsIBMSporadic inclusion body myositisSQSTM1VCP

Identifiers

PMID27594680
PMCPMC5082791
OpenAlexW2509414269

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.